ClinVar Genomic variation as it relates to human health
GRCh38/hg38 20q13.33(chr20:63239482-63415015)x1
Germline
Classification
(1)
Uncertain significance
no assertion criteria provided
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation | Variation Viewer | Related variants | ||
---|---|---|---|---|---|---|
HI score | TS score | Within gene | All | |||
KCNQ2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
2136 | 2267 | |
ARFGAP1 | - | - |
GRCh38 GRCh37 |
38 | 109 | |
BIRC7 | - | - |
GRCh38 GRCh37 |
26 | 92 | |
CHRNA4 | - | - |
GRCh38 GRCh37 |
877 | 1145 | |
COL20A1 | - | - |
GRCh38 GRCh37 |
126 | 197 | |
FLJ16779 | - | - | - | GRCh38 | - | 24 |
LOC100130587 | - | - | - | GRCh38 | - | 101 |
LOC121627914 | - | - | - | GRCh38 | - | 22 |
LOC125387318 | - | - | - | GRCh38 | - | 22 |
LOC125387319 | - | - | - | GRCh38 | - | 27 |
There are 7 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jul 20, 2015 | RCV000207091.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 14, 2024